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    KMT2E lysine methyltransferase 2E (inactive) [ Homo sapiens (human) ]

    Gene ID: 55904, updated on 4-May-2024

    Summary

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    Official Symbol
    KMT2Eprovided by HGNC
    Official Full Name
    lysine methyltransferase 2E (inactive)provided by HGNC
    Primary source
    HGNC:HGNC:18541
    See related
    Ensembl:ENSG00000005483 MIM:608444; AllianceGenome:HGNC:18541
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLL5; NKp44L; ODLURO; SETD5B; HDCMC04P
    Summary
    This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 19.1), endometrium (RPKM 16.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KMT2E in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (105014205..105115019)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (106328912..106429704)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (104654652..104755466)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:104627453-104627954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:104627955-104628454 Neighboring gene long intergenic non-protein coding RNA 1004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:104652040-104652580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26454 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:104653661-104654200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18512 Neighboring gene KMT2E antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18514 Neighboring gene uncharacterized LOC124901717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18515 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:104782308-104782484 Neighboring gene SRSF protein kinase 2 Neighboring gene uncharacterized LOC124901718

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Velmans C, et al. J Med Genet, 2022 Jul. PMID 34321323, Free PMC Article
    2. MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model. Pereira-Martins DA, et al. Cell Death Dis, 2021 Apr 6. PMID 33824267, Free PMC Article
    3. Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review. Li Y, et al. Front Pediatr, 2021. PMID 33681112, Free PMC Article
    4. Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. Sharawat IK, et al. Neuropediatrics, 2021 Apr. PMID 33111303
    5. ODLURO syndrome: personal experience and review of the literature. Conforti R, et al. Radiol Med, 2021 Feb. PMID 32691224

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.
      Title: Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.
    2. MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.
      Title: MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.
    3. MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.
      Title: MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.
    4. ODLURO syndrome: personal experience and review of the literature.
      Title: ODLURO syndrome: personal experience and review of the literature.
    5. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
      Title: Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
    6. In the duloxetine-treated subsample (N=186), we observed suggestive associations with ZNF385D (rs4261893; beta=-0.46, P=1.55 x 10(-5)), NCAM1 (rs2303377; beta=0.45, P=1.76 x 10(-5)) and MLL5 (rs117986340; beta=0.91, P=3.04 x 10(-5)).
      Title: Genome-wide association studies of placebo and duloxetine response in major depressive disorder.
    7. three dimensional structure of MLL5 SET domain unveils the structural basis for its lack of methyltransferase activity
      Title: The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity.
    8. MLL5 preserves spindle bipolarity through maintaining cytosolic PLK1 in a nonaggregated form.
      Title: MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1.
    9. MLL5 interacts with OGT and USP7 to form a stable ternary complex. Upregulation of MLL5 expression was correlated with increased expression of OGT and USP7 in human primary cervical adenocarcinomas.
      Title: Mixed Lineage Leukemia 5 (MLL5) Protein Stability Is Cooperatively Regulated by O-GlcNac Transferase (OGT) and Ubiquitin Specific Protease 7 (USP7).
    10. Suggest a role for MLL5 and H3.3 in maintaining self-renewal hierarchies in adult glioblastomas.
      Title: MLL5 Orchestrates a Cancer Self-Renewal State by Repressing the Histone Variant H3.3 and Globally Reorganizing Chromatin.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    O'Donnell-Luria-Rodan syndrome
    MedGen: C5193138 OMIM: 618512 GeneReviews: KMT2E-Related Neurodevelopmental Disorder
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-12-29)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-12-29)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A linear peptide corresponding to amino-acid residues 102-107 of HIV-1 gp41 induces the expression of NK-p44 ligand in natural killer (NK) cells PubMed
    env HIV-1 gp41 mutants W614A, S615A, N616A, and S618A downregulates the cellular surface expression of NKp44L on CD4+ T cells PubMed
    env Antibodies raised against a 3S motif (residues 609-623) of HIV-1 gp41 from HIV-infected patients inhibit NKp44L expression and CD4 sensitivity to NK lysis PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10078, FLJ14026, MGC70452

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables histone H3 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylated histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylated histone binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in epigenetic regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neutrophil activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neutrophil mediated immunity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Rpd3L-Expanded complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Set3 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of euchromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    inactive histone-lysine N-methyltransferase 2E
    Names
    histone-lysine N-methyltransferase 2E
    histone-lysine N-methyltransferase MLL5
    inactive lysine N-methyltransferase 2E
    lysine (K)-specific methyltransferase 2E
    myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
    myeloid/lymphoid or mixed-lineage leukemia protein 5
    NP_001397837.1
    NP_061152.3
    NP_891847.1
    XP_005250550.1
    XP_011514702.1
    XP_047276568.1
    XP_047276569.1
    XP_054214620.1
    XP_054214621.1
    XP_054214622.1
    XP_054214623.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033949.1 RefSeqGene

      Range
      5016..105830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1404

    mRNA and Protein(s)

    1. NM_001410908.1 → NP_001397837.1  inactive histone-lysine N-methyltransferase 2E isoform b

      Status: REVIEWED

      Source sequence(s)
      AC005065, AC005070, AC007384
      Consensus CDS
      CCDS94170.1
      Related
      ENSP00000417156.2, ENST00000473063.2

    2. NM_018682.4 → NP_061152.3  inactive histone-lysine N-methyltransferase 2E isoform a

      See identical proteins and their annotated locations for NP_061152.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC005070, AF519459, AY147037
      Consensus CDS
      CCDS34723.1
      UniProtKB/Swiss-Prot
      B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
      Conserved Domains (6) summary
      PTZ00449
      Location:1310 → 1502
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:1741 → 1846
      PHA03247; large tegument protein UL36; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam09606
      Location:1463 → 1829
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
      pfam13868
      Location:561 → 669
      TPH; Trichohyalin-plectin-homology domain

    3. NM_182931.3 → NP_891847.1  inactive histone-lysine N-methyltransferase 2E isoform a

      See identical proteins and their annotated locations for NP_891847.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC005070, AF519459, AY147037
      Consensus CDS
      CCDS34723.1
      UniProtKB/Swiss-Prot
      B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
      Related
      ENSP00000312379.3, ENST00000311117.8
      Conserved Domains (6) summary
      PTZ00449
      Location:1310 → 1502
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:1741 → 1846
      PHA03247; large tegument protein UL36; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam09606
      Location:1463 → 1829
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
      pfam13868
      Location:561 → 669
      TPH; Trichohyalin-plectin-homology domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      105014205..105115019
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516400.3 → XP_011514702.1  inactive histone-lysine N-methyltransferase 2E isoform X1

      See identical proteins and their annotated locations for XP_011514702.1

      UniProtKB/Swiss-Prot
      B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
      Conserved Domains (6) summary
      PTZ00449
      Location:1310 → 1502
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:1741 → 1846
      PHA03247; large tegument protein UL36; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam09606
      Location:1463 → 1829
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
      pfam13868
      Location:561 → 669
      TPH; Trichohyalin-plectin-homology domain

    2. XM_005250493.2 → XP_005250550.1  inactive histone-lysine N-methyltransferase 2E isoform X1

      See identical proteins and their annotated locations for XP_005250550.1

      UniProtKB/Swiss-Prot
      B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7
      Conserved Domains (6) summary
      PTZ00449
      Location:1310 → 1502
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:1741 → 1846
      PHA03247; large tegument protein UL36; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam09606
      Location:1463 → 1829
      Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins
      pfam13868
      Location:561 → 669
      TPH; Trichohyalin-plectin-homology domain

    3. XM_047420613.1 → XP_047276569.1  inactive histone-lysine N-methyltransferase 2E isoform X3

      Related
      ENSP00000419525.2, ENST00000478079.2

    4. XM_047420612.1 → XP_047276568.1  inactive histone-lysine N-methyltransferase 2E isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      106328912..106429704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358646.1 → XP_054214621.1  inactive histone-lysine N-methyltransferase 2E isoform X1

      UniProtKB/Swiss-Prot
      B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7

    2. XM_054358645.1 → XP_054214620.1  inactive histone-lysine N-methyltransferase 2E isoform X1

      UniProtKB/Swiss-Prot
      B6ZDE4, B6ZDM3, M4K8J3, Q6P5Y2, Q6PKG4, Q6T316, Q86TI3, Q86W12, Q86WG0, Q86WL2, Q8IV78, Q8IWR5, Q8IZD2, Q8NFF8, Q9NWE7

    3. XM_054358648.1 → XP_054214623.1  inactive histone-lysine N-methyltransferase 2E isoform X3

    4. XM_054358647.1 → XP_054214622.1  inactive histone-lysine N-methyltransferase 2E isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032187.1: Suppressed sequence

      Description
      NM_032187.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZD2.1 GenPept UniProtKB/Swiss-Prot:Q8IZD2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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